Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
[Identification of mutation in PAX9 gene in a Mongolian family with non-syndromic oligodontia].
[oligodontia]
To
investigate
the
mutation
in
transcription
factor
paired
box
gene
PAX
9
in
a
mongolian
family
with
non-syndromic
oligodontia
.
Peripheral
blood
was
collected
from
17
core
family
members
(
9
unaffected
,
8
affected
)
in
this
Mongolian
family
with
non-syndromic
oligodontia
.
Mutation
in
exons
of
PAX
9
gene
was
identified
by
PCR
amplification
and
DNA
sequencing
.
A
point
mutation
c
.
87
G
>
C
at
position
87
in
exon
4
of
PAX
9
was
identified
from
8
affected
members
in
the
family
,
which
were
G
/
C
heterozygous
.
W
hile
the
9
healthy
members
in
the
family
were
homozygous
for
C
which
was
consistent
with
normal
reference
sequence
in
the
GenBank
(
accession
number
:
NC
_
000014
)
.
The
mutation
of
c
.
87
G
>
C
(
p
.
Ala
240
P
ro
)
in
exon
4
of
PAX
9
was
likely
to
cause
the
non-syndromic
oligodontia
in
this
Mongolian
family
.
Diseases
Validation
Diseases presenting
"mutation in transcription factor paired box gene pax9 in a mongolian family"
symptom
oligodontia
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom